BUB1

BUB1 mitotic checkpoint serine/threonine kinase

2 disorders 1 untyped 1 causative 2q13 gene with protein product

HGNC:1148 Monarch NCBI Gene 699 ENSG00000169679 UniProt O43683 OMIM 602452

Previous symbols: BUB1L. Aliases: hBUB1, BUB1A.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Mosaic Variegated Aneuploidy Syndrome	causative germline	mechanism: Mitotic checkpoint gene disruption
Autosomal Recessive Primary Microcephaly	untyped Biallelic Pathogenic Variant	mechanism: Centrosome, Spindle, and Kinetochore Dysfunction; Heterogeneous Biallelic MCPH Gene Dysfunction subtype: MCPH30

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
colorectal cancer MONDO:0005575	AD	Limited 2023-12-20	BRAF V600E-Mutant Colorectal Cancer not named HER2-Positive Colorectal Cancer not named MSI-High Colorectal Cancer not named

Mechanism modules · computed from kb/

neural_progenitor_centrosome_spindle_dysfunction via Autosomal Recessive Primary Microcephaly

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.